Hypospadias

Hypospadias is a congenital abnormality of the anterior urethral and penile development resulting in ventral placement of the urethral opening. The location can range from the glans penis to the scrotum. Associated abnormalities include ventral shortening as well as chordee (curvature).

Pathophysiology

In the 9th week of gestation, androgenic stimulation initiates the fusion of the genital folds and growth of the genital tubercle. The urethral opening is formed by fusion of the endodermal urethral folds completed by the 16-18th week. It is partial or failure of the urethral folds that result in abnormal urethral development. Significant anxiety can result from sexual performance and dissatisfaction form appearance of their penis.

Epidemiology

Hypospadias occurs in 1 of 250 births in the US. An increase in incidence has been related to prematurity and low birth weight babies, increased exposure to environmental contaminants/drugs as well as increased reporting of minor grades of hypospadias. More prevalent in males born to Caucasian mothers compared to black/hispanics. The vast majority are located glanular, subcoronal, and distal shaft (85%) and are recognized by the presence of a dorsal hood and a defect of the ventral prepuce. The incidence is 8% if the father had hypospadias and 14% if a sibling had hypospadias.

Risk factors for hypospadias include

Advanced maternal age

Pre-existing Diabetes mellitus

Prematurity

Family history

Environmental exposure

Morbidity

Mild hypospadias without significant curvature has little effect on function except for urinary stream. Severe forms may result in difficulty controlling stream, erectile dysfunction and infertility.

Associated Anomalies

Routine screening for upper urinary tract abnormalities is generally not recommended unless the urethral opening is on the perineum. Screening should also be considered if there is associated myelomeningocele or sacral agenesis. There is a 10% incidence of cryptorchidism and inguinal hernias.

Diagnosis

Diagnosis is usually made during the newborn exam. Physical findings include

Abnormal curvature (Chordee)

Incomplete closure of foreskin around glans

Appearance of 2 urethral openings, the first in its normal position is a blind pit while the second can be found anywhere along the shaft to the scrotum

Assess for palpable testes to identify accompanying cryptorchidism or other abnormalies that may suggest the presence of a syndrome. Further evaluation may include pelvic ultrasound, serum electrolytes for CAH (congenital adrenal hyperplasia), karyotyping.

Management

At diagnosis, pediatric urologist should be consulted to determine if further evaluation is needed. Sex determination may require consultation with a urologist and an endocrinologist. Parental teaching and reassurance is extremely important to ensure a good understanding of what to expect in their experience. Circumcision should be delayed so as to preserve the foreskin for use in surgical intervention. The goal of surgical intervention is to create as normal a function and appearance as possible. The AAP recommends surgery prior to 18 months of age when gender identity is established. In the two-staged approach for the correction of severe hypospadias, the first surgery is performed by 6 months and the second procedure by 1 year of life. Complications from surgery include

Urethral fistula

Urethral stricture

Urethral diverticulum

Bleeding and pain

Outcomes

Initial measures include observation of urinary stream and signs of swelling or abnormalities that may indicate a complication has occurred such as 2 urinary steams or a thin stream. Surgical correction usually results in good cosmetic and functional improvement sexual performance, and fertility.